RPL27 gene related symptoms and diseases
All the information presented here about the RPL27 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to RPL27 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Anemia | Very Common - Between 80% and 100% cases |
| Atrial septal defect | Very Common - Between 80% and 100% cases |
| Short stature | Uncommon - Between 30% and 50% cases |
| Abnormality of the hand | Uncommon - Between 30% and 50% cases |
| Ventricular hypertrophy | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with RPL27 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Thick lower lip vermilion
- Depressed nasal ridge
- Mitral regurgitation
- Abnormality of the genital system
- Short thumb
- Melanoma
- Abnormality of the urinary system
- Macrocytic anemia
And 35 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to RPL27 gene
Here you will find a list of rare diseases related to the RPL27. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
BLACKFAN-DIAMOND ANEMIA
Alternate names
BLACKFAN-DIAMOND ANEMIA Is also known as congenital hypoplastic anemia, blackfan-diamond type, congenital pure red cell aplasia, aase-smith syndrome ii, congenital prca, aase-smith ii syndrome, aase syndrome
Description
Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia.
Most common symptoms of BLACKFAN-DIAMOND ANEMIA
- Short stature
- Growth delay
- Hypertelorism
- Neoplasm
- Failure to thrive
More info about BLACKFAN-DIAMOND ANEMIA
DIAMOND-BLACKFAN ANEMIA 16; DBA16
Most common symptoms of DIAMOND-BLACKFAN ANEMIA 16; DBA16
- Anemia
- Atrial septal defect
- Pulmonic stenosis
More info about DIAMOND-BLACKFAN ANEMIA 16; DBA16
SOURCES: OMIM
Search interest in RPL27
Potential gene panels for RPL27 gene
Diamond-Blackfan anemia (NGS panel of 18 genes) Panel
Portugal.
By CGC Genetics Diamond-Blackfan anemia (NGS panel of 18 genes) that also includes the following genes: RPL11 RPL15 RPL26 RPL27 RPL31 RPL35A RPL5 RPS10 RPS17 RPS19
More info about this panel Portugal.
Diamond-Blackfan anemia (NGS panel of 18 genes) Panel
Portugal.
By CGC Genetics Diamond-Blackfan anemia (NGS panel of 18 genes) that also includes the following genes: RPL11 RPL15 RPL26 RPL27 RPL31 RPL35A RPL5 RPS10 RPS17 RPS19
More info about this panel Portugal.
Diamond-Blackfan anemia NGS panel Panel
United States.
By Connective Tissue Gene Tests Diamond-Blackfan anemia NGS panel that also includes the following genes: RPL11 RPL15 RPL26 RPL27 RPL31 RPL35A RPL5 RPS10 RPS17 RPS19
More info about this panel United States.
Diamond-Blackfan anemia Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Diamond-Blackfan anemia Deletion / Duplication panel that also includes the following genes: RPL11 RPL15 RPL26 RPL27 RPL31 RPL35A RPL5 RPS10 RPS17 RPS19
More info about this panel United States.
Diamond-Blackfan anemia Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Diamond-Blackfan anemia Comprehensive panel that also includes the following genes: RPL11 RPL15 RPL26 RPL27 RPL31 RPL35A RPL5 RPS10 RPS17 RPS19
More info about this panel United States.
NGS Panel for Diamond-Blackfan Anemia Panel
Spain.
By BLOODGENETICS BLOODGENETICS NGS Panel for Diamond-Blackfan Anemia that also includes the following genes: RPL11 RPL15 RPL19 RPL26 RPL27 RPL31 RPL35A RPL5 RPL9 RPS10
More info about this panel Spain.
RPL27 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the RPL27 gene.
More info about this panel United States.
BLACKFAN-DIAMOND ANEMIA: NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL BLACKFAN-DIAMOND ANEMIA: NGS PANEL that also includes the following genes: RPL11 RPL15 RPL26 RPL27 RPL31 RPL35A RPL5 RPS10 RPS17 RPS19
More info about this panel Spain.
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